Sensenbrenner Syndrome

At the Sensenbrenner Syndrome it is a genetic disease that is extremely rare. Sensenbrenner syndrome is characterized by a large number of anatomical and functional defects. There are currently fewer than 20 known cases of Sensenbrenner Syndrome. Sensenbrenner syndrome was first described in 1975.

What is Sensenbrenner Syndrome?

At the Sensenbrenner Syndrome it is a hereditary disease with an autosomal recessive inheritance. Currently, only about 20 people are known to have the scythe burner syndrome in medicine. Sensenbrenner syndrome manifests itself in skeletal abnormalities, such as a narrowed chest, clinodactyly, syndactyly and brachydactyly.

In addition, there are ectodermal defects in the scythe burner syndrome, such as malformations of the teeth such as hypodontia, microdontia or taurodontism. The hair of people suffering from Sensenbrenner Syndrome is often thinning, and there are often abnormalities on the fingers and nails. Some patients with Sensenbrenner Syndrome have hypotelorism and lower lip abnormalities.

In many cases the people develop a chronic kidney weakness due to the scythe burner syndrome, which sometimes leads to the failure of the organ. Kidney failure results from nephronophthisis and usually takes place between the ages of two and six. The functioning of the liver is also partially impaired by the scythe burner syndrome.

In addition, numerous patients with Sensenbrenner syndrome suffer recurring infections of the lungs and have malformations of the heart. Malformations of the eyes such as nystagmus or myopia are also common.

causes

The causes of the development of the scythe burner syndrome can be found in genetic defects. Mutations occur in certain genes. So far, medical research has identified three genes that are responsible for the development of the scythe burner syndrome. Basically, there is an autosomal recessive inheritance pattern in Sensenbrenner syndrome.

Symptoms, ailments & signs

The symptoms of Sensenbrenner Syndrome are diverse and manifest themselves on the one hand in abnormalities of the skeleton and on the other hand in dysfunction of organs. The physical growth of patients suffering from Sensenbrenner Syndrome is slowed down even before they are born. The growth retardation also continues postnatally, so that most people affected by scythe burn syndrome do not reach an average height.

The malformations of the skeleton can be seen, for example, in the hands and fingers. The patients often show brachydactyly or syndactyly. In addition, many affected people suffer from a narrowed thorax and microcephaly. Typical anomalies caused by disorders of the ectoderm also appear on the teeth as a result of the scythe burner syndrome. The patients often have smaller teeth or teeth with unusual shapes.

The hair of people with Sensenbrenner Syndrome is usually fine and thinning. It grows slowly and sparsely and has few pigments, so it is often light blond. The nails of people with Sensenbrenner Syndrome are often deformed. In addition, those affected often suffer from hypohidrosis and malformations of the heart. The eyes are also affected by defects and functional restrictions.

Those suffering from Sensenbrenner Syndrome are mostly photophobic and develop liver fibrosis. In addition, patients suffer from chronic kidney failure due to Sensenbrenner Syndrome. Above all, the impairment of organ functions can lead to the premature death of people with Sensenbrenner Syndrome.

Diagnosis & course of disease

The diagnosis of Sensenbrenner Syndrome is best made in a specialist center for rare hereditary diseases, as the disease is little known. The anamnesis usually takes place with the custodial and the newborn patient, since the scythe burner syndrome is in most cases already apparent immediately after birth. The clinical examination is based on gaze examinations and imaging tests of the skeleton and internal organs.

Ultrasound and X-ray techniques, for example, are used for this purpose. In addition, analyzes of blood and urine play an important role in diagnosing scythes burner syndrome. In addition, the specialist usually performs histological examinations of the liver and kidneys in order to draw conclusions about the organ functions.

The eyes are also the subject of appropriate examinations in order to identify defects and functional disorders. In the differential diagnosis, the doctor rules out Jeune syndrome and Ellis van Creveld syndrome. Both diseases are similar to Sensenbrenner Syndrome to a certain extent, so that avoidable mix-ups are possible through hasty diagnosis.

Complications

Sensenbrenner syndrome has a very negative effect on the quality of life and everyday life of the person affected. The patients suffer from a variety of malformations and limitations and their lives and are therefore dependent on the help of other people. First and foremost, there are delays in growth and development.

These can be accompanied by mental retardation and short stature. This can lead to bullying or teasing, especially at a young age. The teeth and toes are also often reduced in size or otherwise deformed. This syndrome can also cause deformities in the heart, so that in the worst case, those affected can die of sudden cardiac death.

Because of Sensenbrenner's Syndrome, the kidneys are also damaged, which can lead to kidney failure. In most cases, the life expectancy of those affected is significantly reduced. There are usually no complications in treating the syndrome. However, the syndrome can only be treated symptomatically, so that it does not lead to a completely positive course of the disease.

When should you go to the doctor?

Sensenbrenner syndrome always requires treatment. The earlier Sensenbrenner Syndrome is recognized, the better the prognosis for this disease. A doctor should be consulted if the person concerned suffers from severely retarded growth. Various malformations also occur on the skeleton, which in most cases can also be easily recognized with the eye. The hands and feet are also affected by these malformations.

Therefore, if these symptoms occur, a doctor must be consulted in any case. Most importantly, parents need to be aware of these symptoms and see a doctor with their child. Furthermore, restrictions in movement or visual problems also point to the scythe burner syndrome. If the syndrome itself is not treated, it can also lead to kidney failure, which in the worst case leads to death of the person concerned.

Sensenbrenner syndrome can be diagnosed by a doctor. Further treatment, however, depends on the extent of the symptoms and is then carried out by a specialist.

Treatment & Therapy

A therapy of the causes is not practicable in the scythe burner syndrome. Instead, doctors treat the symptoms of Sensenbrenner Syndrome, for example by correcting the malformations on the skeleton. Due to the weak kidneys, dialysis is necessary in many patients. The kidney may need to be transplanted when the organ has failed.

The prognosis of Sensenbrenner Syndrome depends primarily on the severity of the organ dysfunction. The focus is on the function of the kidneys, heart and lungs. Because the corresponding functional restrictions represent an acute threat to the lives of people suffering from Sensenbrenner Syndrome. With regard to the rare occurrence of the disease and the small number of cases observed so far, precise statements about the probability of survival and prognosis of the Sensenbrenner syndrome are not possible.

prevention

Sensenbrenner syndrome arises as a result of genetic mutations that cannot be influenced. In some cases, prenatal diagnosis of Sensenbrenner Syndrome is possible. In principle, families with cases of Sensenbrenner Syndrome are entitled to genetic counseling, which is particularly useful when planning a family.

Aftercare

In most cases, the measures and the options for direct follow-up care for Sensenbrenner Syndrome are significantly limited or, in some cases, are not even available to the person affected. For this reason, the patient should consult a doctor as early as possible to prevent other complaints and complications from occurring.

Likewise, if the person concerned wants to have children, they should definitely first have a genetic examination and advice carried out in order to prevent this syndrome from occurring again. Since this is a genetic disease, it usually cannot be completely cured. Most patients rely on regular dialysis for treatment.

In many cases, the support of family and friends is also very important, which can prevent the development of depression and other psychological disorders. Contact with other patients with the disease can prove to be very useful and thus also make life and everyday life easier for those affected. However, the further course of this syndrome is very much dependent on the exact severity, so that a general prediction cannot be made. Sensenbrenner syndrome may also reduce the patient's life expectancy.

You can do that yourself

People who suffer from the genetic scythe burner syndrome have great difficulties in everyday life. Typical symptoms such as visual disturbances, kidney problems and frequent respiratory infections have a very negative effect on the quality of life. Most patients die in childhood. For this reason, prenatal diagnosis is recommended. Families in which the rare genetic defect has already emerged should definitely seek appropriate genetic counseling.

In everyday life, regular dialysis appointments are inevitable due to renal insufficiency. In addition, the parents of sick children can find out about possible corrections to the existing malformations. The patients should be treated with great caution and require a great deal of attention. Affectionate interaction can alleviate the suffering a little. For the parents there is support from the doctors and clinics.

However, as the disease is extremely rare, there are no self-help groups. After all, those affected receive a certain amount of support in psychotherapeutic sessions, through advice from medical experts and also through other social contacts. The close contact between family members also plays a very important role. Parents and sick children feel less excluded.